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• Primary hypobetalipoproteinemia (HBL) can be either monogenic or polygenic. • We compared two polygenic risk scores (PRS1-PRS2) in primary HBL. • Among 170 subjects with primary HBL, 37% had a polygenic origin. • Prevalence of liver steatosis did not differ in monogenic and polygenic HBL. • Only PRS1 is effective in detecting polygenic HBL. Primary Hypobetalipoproteinemias (HBL) are a group of dominant and recessive monogenic genetic disorders caused by mutations in APOB, PCSK9, ANGPTL3, MTTP, Sar1b genes and characterized by plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in a given population. Mutations in the candidate genes account only for a small proportion of subjects with HBL suggesting a role for a polygenic contribution to the low cholesterol phenotype. To explore the complex genetic architecture of HBL we compared two polygenic risk scores in order to assess the role of the polygenic burden and the differences in the clinical phenotype between monogenic and polygenic HBL; we studied a cohort of 170 subjects with primary HBL referred over a 25-year period to 2 Italian reference centers have been studied. The genetic analyses have been based on: Sanger sequencing, in-house NGS customized panel and two scores, PRS1 and PRS2 for the polygenic burden. Sixty 60 (35%) and 63 (37%) subjects had a monogenic and polygenic HBL respectively. LDL-C plasma levels were significantly lower in monogenic HBL (30.87 ± 3.12 mg/dl) compared with the non-monogenic HBL (42.80 ± 2.18 mg/dl) (p<0.002) with no differences in the percentage of fatty liver. Only PRS1 is effective in detecting polygenic HBL while PRS2 does not improve the polygenic diagnosis. [ABSTRACT FROM AUTHOR]

The purpose of this study was to have a nationwide snapshot of the characteristics of patients hospitalized in Internal Medicine Units (IMUs) for exacerbation of chronic obstructive pulmonary disease (COPD), and to assess applicability and contents of a specific Hospital Discharge Form for the patient with exacerbation of COPD discharged from IMUs. This was a prospective study in 44 IMUs in Italy, enrolling patients hospitalized with a diagnosis of COPD exacerbation. Information concerning clinical characteristics of patients, and treatment for COPD at discharge was collected. Specific documents for monitoring of clinical conditions and adherence to therapies as well as a form including individual indications for clinical controls, instrumental tests, etc. were provided upon discharge. Four hundred and seventy-two patients were enrolled (68% male). According to GOLD classification 2015, patients with classes A to D were 12%, 27%, 31%, and 30%, respectively. Triple therapy was prescribed in 14% of GOLD A and 51% of GOLD D patients. Around 10% of patients for each GOLD class received no specific therapy. The vast majority of patients (85%) received instructions on the correct use of inhalers, and in most cases (85%), the quality of counseling was considered optimal/adequate. Indication for performing chest X-ray, spirometry, or blood gas analysis following discharge was addressed to 29%, 59% and 52.1% of patients, respectively. The follow-up sheet for COPD used in our study was shown as applicable. This highlighted the need for greater awareness and more standardized procedures within IMUs in the post-discharge phase. [ABSTRACT FROM AUTHOR]

The article presents the interview with Antonio Brucato, Associate Professor of University of Milan and Fatebenefratelli Hospital. Topics include the appointed chief has created COVID-19 Emergency Unit at the Hospital on the night of March 25, 2020, the patients' anxiety often has stemmed from the fact that they were not able to see or speak with their families, and the communication with patients being certainly part of the training received during medical residency in recent times.

Purpose: To investigate the prevalence of xanthine oxidase (XO) inhibitors prescription at admission and discharge in elderly hospital in-patients, to analyze the appropriateness of their use in relation to evidence-based indications, to evaluate the predictors of inappropriate prescription at discharge and the association with adverse events 3 months after hospital discharge. Methods: This cross-sectional study, based upon a prospective registry, was held in 95 Italian internal medicine and geriatric hospital wards. The sample included 4035 patients aged 65 years or older at admission and 3502 at discharge. The prescription of XO inhibitors was considered appropriate in patients with diagnosis of gout, gout nephropathy, uric acid nephrolithiasis, tophi, and chemotherapy-induced hyperuricemia. In order to evaluate the predictors of inappropriate prescription of XO inhibitors, we compared the characteristics of patients considered inappropriately treated with those appropriately not treated. Results: Among the 4035 patients eligible for the analysis, 467 (11.6 %) were treated with allopurinol or febuxostat at hospital admission and 461 (13.2 %) among 3502 patients discharged. At admission, 39 (8.6 %) of patients receiving XO inhibitors and 43 (9.4 %) at discharge were appropriately treated. Among those inappropriately treated, hyperuricemia, polytherapy, chronic renal failure, diabetes, obesity, ischemic cardiomyopathy, heart failure, and cardiac dysrhythmias were associated with greater prescription of XO inhibitors. Prescription of XO inhibitors was associated with a higher risk of adverse clinical events in univariate and multivariate analysis. Conclusions: Prevalence of inappropriate prescription of XO inhibitors remained almost the same at admission and discharge. Inappropriate use of these drugs is principally related to treatment of asymptomatic hyperuricemia and various cardiovascular diseases. [ABSTRACT FROM AUTHOR]

Objective. To evaluate the association between serum complement levels (C3 and C4) and obstetric complications.Methods. Fifty-seven pregnancies in primary APS (PAPS) patients were compared with 49 pregnancies in patients with UCTD and SS. A group of 175 healthy pregnant women were studied to calculate a normality range for C3 and C4 during pregnancy. Such a range was applied to define hypocomplementaemia in PAPS and UCTD/SS.Results. Both groups of patients (PAPS and UCTD/SS) showed significantly lower levels of C3 and C4 in each trimester as compared with healthy women; conversely, no significant difference was found between PAPS and UCTD/SS. Comparing PAPS pregnancies with and without complications, no difference was found in the prevalence of low C3 or low C4.Conclusion. No association was found between hypocomplementaemia and obstetric complications in PAPS. However, both cases of pre-eclampsia were characterized by low C3 throughout pregnancy. There is evidence that the complement system is a contributor to the mechanisms of aPL-mediated damage, but its predictive role on the final pregnancy outcome does not seem to be of major impact. [ABSTRACT FROM PUBLISHER]

Objective To assess fetal and maternal outcomes in women with systemic sclerosis (SSc). Methods Prospectively collected data on 99 women with SSc from 25 Italian centers were analyzed retrospectively. Women with SSc were observed during 109 pregnancies (from 2000 to 2011), and outcomes were compared to those in the general obstetric population (total of 3,939 deliveries). The maternal age at conception was a mean ± SD 31.8 ± 5.3 years, and the median disease duration at conception was 60 months (range 2-193 months). Results SSc patients, compared to the general obstetric population, had a significantly increased frequency of preterm deliveries (25% versus 12%) and severe preterm deliveries (<34 weeks of gestation) (10% versus 5%), intrauterine growth restriction (6% versus 1%), and babies with very-low birth weight (5% versus 1%). Results of multivariable analysis showed that corticosteroid use was associated with preterm deliveries (odds ratio [OR] 3.63, 95% confidence interval [95% CI] 1.12-11.78), whereas the use of folic acid (OR 0.30, 95% CI 0.10-0.91) and presence of anti-Scl-70 antibodies (OR 0.26, 95% CI 0.08-0.85) were protective. The disease remained stable in most SSc patients, but there were 4 cases of progression of disease within 1 year from delivery, all in anti-Scl-70 antibody-positive women, 3 of whom had a disease duration of <3 years. Conclusion Women with SSc can have successful pregnancies, but they have a higher-than-normal risk of preterm delivery, intrauterine growth restriction, and babies with very-low birth weight. Progression of the disease during or after pregnancy is rare, but possible. High-risk multidisciplinary management should be standard for these patients, and pregnancy should be avoided in women with severe organ damage and postponed in women with SSc of recent onset, particularly if the patient is positive for anti-Scl-70 antibodies. [ABSTRACT FROM AUTHOR]

Background: Recurrence is the most common complication of pericarditis, affecting 10% to 50% of patients. Objective: To evaluate the efficacy and safety of colchicine for the secondary prevention of recurrent pericarditis. Design: Prospective, randomized, double-blind, placebocontrolled multicenter trial. (ClinicalTrials.gov registration number: NCT00128414) Setting: 4 general hospitals in urban areas of Italy. Patients: 120 patients with a first recurrence of pericarditis. Intervention: In addition to conventional treatment, patients were randomly assigned to receive either placebo or colchicine, 1.0 to 2.0 mg on the first day followed by a maintenance dose of 0.5 to 1.0 mg/d, for 6 months. Measurements: The primary study end point was the recurrence rate at 18 months. Secondary end points were symptom persistence at 72 hours, remission rate at 1 week, number of recurrences, time to first recurrence, disease-related hospitalization, cardiac tamponade, and rate of constrictive pericarditis. Results: At 18 months, the recurrence rate was 24% in the colchicine group and 55% in the placebo group (absolute risk reduction, 0.31 [95% CI, 0.13 to 0.46]; relative risk reduction, 0.56 [CI, 0.27 to 0.73]; number needed to treat, 3 [CI, 2 to 7]). Colchicine reduced the persistence of symptoms at 72 hours (absolute risk reduction, 0.30 [CI, 0.13 to 0.45]; relative risk reduction, 0.56 [CI, 0.27 to 0.74]) and mean number of recurrences, increased the remission rate at 1 week, and prolonged the time to subsequent recurrence. The study groups had similar rates of side effects and drug withdrawal. Limitation: Multiple recurrences and neoplastic or bacterial causes were excluded. Conclusion: Colchicine is safe and effective for secondary prevention of recurrent pericarditis. Primary Funding Source: Maria Vittoria Hospital, Torino, Italy. [ABSTRACT FROM AUTHOR]

In April 2008, 585 tortoises illegally imported into Italy from North Africa were examined for the presence of ticks. Of these, 221 tortoises (37.8%) were infested with a mean intensity of 3.9 ± 3.1 ticks (range 1–17 ticks). A total of 798 ticks (672 males, 125 females and one nymph) were collected and identified as Hyalomma aegyptium (L.) (Acari: Ixodidae). The overall male : female ratio observed was 5 : 1. The prevalence and mean intensity [±standard deviation (SD)] of ticks were higher among male (67.4%, 4.0 ± 3.2) than female (55.6%, 3.8 ± 3.1) tortoises, although this difference was not significant. By contrast, the prevalence and mean intensity of ticks were significantly higher on tortoises weighing >100 g (61.5%, 4.0 ± 3.2) compared with tortoises weighing <100 g (12.1%, 2.1 ± 1.1). Of the infested tortoises, 89.8% had ticks on their hind limbs, 21.0% on forelimbs, 18.6% on the tail and pre-anal area, and 4.8% on the head; thus the hind limbs were evidently the preferred attachment site. The present report highlights the need to develop surveillance systems to prevent the introduction and spreading of exotic ticks and tick-borne pathogens in Italy and other European countries. [ABSTRACT FROM AUTHOR]

Background Colchicine is effective for the treatment of acute pericarditis and first recurrences. However, conclusive data are lacking for the efficacy and safety of colchicine for treatment of multiple recurrences of pericarditis. Methods We did this multicentre, double-blind trial at four general hospitals in northern Italy. Adult patients with multiple recurrences of pericarditis (≥two) were randomly assigned (1:1) to placebo or colchicine (0·5 mg twice daily for 6 months for patients weighing more than 70 kg or 0·5 mg once daily for patients weighing 70 kg or less) in addition to conventional anti-inflammatory treatment with aspirin, ibuprofen, or indometacin. Permuted block randomisation (size four) was done with a central computer-based automated sequence. Patients and all investigators were masked to treatment allocation. The primary outcome was recurrent pericarditis in the intention-to-treat population. This trial is registered with ClinicalTrials.gov, number NCT00235079. Findings 240 patients were enrolled and 120 were assigned to each group. The proportion of patients who had recurrent pericarditis was 26 (21·6%) of 120 in the colchicine group and 51 (42·5%) of 120 in the placebo group (relative risk 0·49; 95% CI 0·24—0·65; p=0·0009; number needed to treat 5). Adverse effects and discontinuation of study drug occurred in much the same proportions in each group. The most common adverse events were gastrointestinal intolerance (nine patients in the colchicine group vs nine in the placebo group) and hepatotoxicity (three vs one). No serious adverse events were reported. Interpretation Colchicine added to conventional anti-inflammatory treatment significantly reduced the rate of subsequent recurrences of pericarditis in patients with multiple recurrences. Taken together with results from other randomised controlled trials, these findings suggest that colchicine should be probably regarded as a first-line treatment for either acute or recurrent pericarditis in the absence of contraindications or specific indications. Funding Azienda Sanitaria 3 of Torino (now ASLTO2). [ABSTRACT FROM AUTHOR]

Background Short-term prognosis, e.g. mortality at three months, has many important implications in planning the overall management of patients, particularly non-oncologic patients in order to avoid futile practices. The aims of this study were: i) to investigate the risk of three-month mortality after discharge from internal medicine and geriatric wards of non-oncologic patients with at least one of the following conditions: permanent bedridden status during the hospital stay; severely reduced kidney function; hypoalbuminemia; hospital admissions in the previous six months; severe dementia; ii) to establish the absolute risk difference of three-month mortality of bedridden compared to non-bedridden patients. Methods This prospective cohort study was run in 102 Italian internal medicine and geriatric hospital wards. The sample included all patients with three-months follow-up data. Bedridden condition was defined as the inability to walk or stand upright during the whole hospital stay. The following parameters were also recorded: estimated GFR ≤ 29 mL/min/1.73 m 2 ; severe dementia; albuminemia ≪2.5 g/dL; hospital admissions in the six months before the index admission. Results Of 3915 patients eligible for the analysis, three-month follow-up were available for 2058, who were included in the study. Bedridden patients were 112 and the absolute risk difference of mortality at three months was 0.13 (CI 95% 0.08–0.19, p ≪ 0.0001). Logistic regression analysis also adjusted for age, sex, number of drugs and comorbidity index found that bedridden condition (OR 2.10, CI 95% 1.12–3.94), severely reduced kidney function (OR 2.27, CI 95% 1.22–4.21), hospital admission in the previous six months (OR 1.96, CI 95% 1.22–3.14), severe dementia (with total or severe physical dependence) (OR 4.16, CI 95% 2.39–7.25) and hypoalbuminemia (OR 2.47, CI 95% 1.12–5.44) were significantly associated with higher risk of three-month mortality. Conclusions Bedridden status, severely reduced kidney function, recent hospital admissions, severe dementia and hypoalbuminemia were associated with higher risk of three-month mortality in non-oncologic patients after discharge from internal medicine and geriatric hospital wards. [ABSTRACT FROM AUTHOR]

Abstract: The life cycles of filarioids of dogs presenting dermal microfilariae have been little studied. Following the recent retrieval of dermal microfilariae identified as Cercopithifilaria sp. in a dog from Sicily (Italy), this study was designed to assess the role of the brown dog tick Rhipicephalus sanguineus as an intermediate host of this filarial species. An experimental tick infestation was performed on an infected dog using 300 nymphs of R. sanguineus. Engorged nymphs were collected and examined by both microscopic dissection and molecular analysis at five time points (i.e., the same day of tick detachment and 10, 20, 30 and 50 days post-detachment) to detect the presence and developmental stage of filariae in the ticks. A total of 270 engorged nymphs were collected from the dog and developing filarioid larvae detected in 10 (5%) out of 200 ticks dissected. Infective third-stage larvae were observed in 4 (2%) of the all dissected ticks, 30 days post-detachment. Twelve (6.6%) out of 181 samples molecularly tested were positive for Cercopithifilaria sp. This study demonstrates that nymphs of R. sanguineus feeding on a dog naturally infected by Cercopithifilaria sp. can ingest microfilariae, which develop up to the third infective stage thus suggesting that this tick species might act as an intermediate host of this little known canine filarioid. [Copyright &y& Elsevier]

Recurrent pericarditis, an inflammatory syndrome with a pathogenesis not fully elucidated, often presents diagnostic challenges. This study aims to assess the correlation of D-Dimer (D-D) and procalcitonin (PCT) levels with clinical, laboratory and imaging features in recurrent idiopathic pericarditis. We analyzed 412 patients with idiopathic recurrent pericarditis from 2019 to 2023 in our referral center. D-D and PCT values were obtained from emergency room in other Italian facilities. Among the cohort, PCT levels were assessed in 50 of 412 patients (12.1%), with only 4 showing marginal elevation. D-D levels were measured in 48 of 412 patients (11.6%), with 33 of them exhibiting elevated values. None of these patients had venous thromboembolism, and elevated D-D levels were significantly associated with pleural effusion, fever, higher CRP, increased white blood cell counts, higher neutrophil counts, reduced relative lymphocyte counts. Multivariate analysis revealed fever as the sole correlate of elevated D-D. PCT elevation was infrequent and unrelated to any variables. In idiopathic recurrent pericarditis unrelated to specific conditions, we observed a close association between elevated D-D levels and non-specific inflammation markers, including fever, increased CRP, and neutrophil leukocytosis. PCT levels were typically normal or mildly elevated., Competing Interests: Declarations. Conflict of interest: Prof Antonio Luca Brucato: Institution received funding from Kiniksa Pharmaceuticals, Ltd. as an investigative site; unrestricted research grants from SOBI and ACARPIA; travel and accommodation for the advisory committee from SOBI and Kiniksa. All other authors declare that they have no conflicts of interest. Ethical approval: Obtained. Human and animal rights statements and Informed consent: All participants provided informed consent prior to their participation., (© 2024. The Author(s), under exclusive licence to Società Italiana di Medicina Interna (SIMI).)

Background: To compare differences in the probability of COVID-19-related death between native Italians and immigrants hospitalised with COVID-19., Methods: This retrospective study of prospectively collected data was conducted at the ASST Fatebenefratelli-Sacco Hospital in Milan, Italy, between 21 February and 31 November 2020. Uni- and multivariable Cox proportional hazard models were used to assess the impact of the patients' origin on the probability of COVID-19-related death., Results: The study population consisted of 1,179 COVID-19 patients: 921 Italians (78.1%) and 258 immigrants (21.9%) who came from Latin America (99, 38%), Asia (72, 28%), Africa (50, 19%) and central/eastern Europe (37, 14%). The Italians were significantly older than the immigrants (median age 70 years, interquartile range (IQR) 58-79 vs 51 years, IQR 41-60; p < 0.001), and more frequently had one or more co-morbidities (79.1% vs 53.9%; p < 0.001). Mortality was significantly greater among the Italians than the immigrants as a whole (26.6% vs 12.8%; p < 0.001), and significantly greater among the immigrants from Latin America than among those from Asia, Africa or central/eastern Europe (21% vs 8%, 6% and 8%; p = 0.016). Univariable analysis showed that the risk of COVID-19-related death was lower among the immigrants (hazard ratio [HR] 0.43, 95% confidence interval [CI] 0.30-0.63; p < 0.0001], but the risk of Latin American immigrants did not significantly differ from that of the Italians (HR 0.74, 95% CI 0.47-1.15; p = 0.183). However, after adjusting for potential confounders, multivariable analysis showed that there was no difference in the risk of death between the immigrants and the Italians (adjusted HR [aHR] 1.04, 95% CI 0.70-1.55; p = 0.831), but being of Latin American origin was independently associated with an increased risk of death (aHR 1.95, 95% CI 1.17-3.23; p = 0.010)., Conclusions: Mortality was lower among the immigrants hospitalised with COVID-19 than among their Italian counterparts, but this difference disappeared after adjusting for confounders. However, the increased risk of death among immigrants of Latin American origin suggests that COVID-19 information and prevention initiatives need to be strengthened in this sub-population., (© 2022. The Author(s).)

Objectives: The outbreak of COVID-19 posed the issue of urgently identifying treatment strategies. Colchicine was considered for this purpose based on well-recognised anti-inflammatory effects and potential antiviral properties. In the present study, colchicine was proposed to patients with COVID-19, and its effects compared with 'standard-of-care' (SoC)., Methods: In the public hospital of Esine, northern Italy, 140 consecutive inpatients, with virologically and radiographically confirmed COVID-19 admitted in the period 5-19 March 2020, were treated with 'SoC' (hydroxychloroquine and/or intravenous dexamethasone; and/or lopinavir/ritonavir). They were compared with 122 consecutive inpatients, admitted between 19 March and 5 April 2020, treated with colchicine (1 mg/day) and SoC (antiviral drugs were stopped before colchicine, due to potential interaction)., Results: Patients treated with colchicine had a better survival rate as compared with SoC at 21 days of follow-up (84.2% (SE=3.3%) vs 63.6% (SE=4.1%), p=0.001). Cox proportional hazards regression survival analysis showed that a lower risk of death was independently associated with colchicine treatment (HR=0.151 (95% CI 0.062 to 0.368), p<0.0001), whereas older age, worse PaO2/FiO2, and higher serum levels of ferritin at entry were associated with a higher risk., Conclusion: This proof-of-concept study may support the rationale of use of colchicine for the treatment of COVID-19. Efficacy and safety must be determined in controlled clinical trials., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Orthostatic hypotension (OH) is a multifactorial disorder, often asymptomatic. The prevalence of OH increases with age, ranging from 5 to 11% among middle-aged patients to 55% in the frail elderly depending on age and associated comorbidities. OH is often unrecognized or misdiagnosed and little is known about its prevalence in hospitalized elderly patients. Our aims were: (1) to determine the prevalence of OH in a cohort of elderly patients hospitalized in two internal medicine wards in Italy; (2) and to describe their characteristics and symptoms. During the 5 months from March 1, 2017 to July 31, 2017, the first 85 consecutive patients (65 years or older) admitted in two internal medicine wards were enrolled. Patients were included in the study if they were able to get out of bed alone or with minor assistance, and able to stand up for at least 3 min. The study population comprised 85 patients with a mean age of 79.6 ( ± 7.2) years. OH was found in 64 (75.3%), occasional OH in 41 (48.2%), persistent OH in 23 (27.1%), and 21 (24.7%) patients had no OH. All patients had diastolic OH and 37 (57.8%) also systolic. Patients with persistent OH were oldest, with a higher percentage of renal failure. Twenty-six patients (40.6%) with OH reported symptoms. Dizziness was the most common symptom, especially after breakfast. No association was found between type of medications and risk of OH. Mortality risk was not statistically different between patients with or without OH 3 (p = 0.10) and 6 months after discharge (p = 0.18), but a trend was observed. We found that OH is very common in the patients admitted in the internal medicine wards, particularly diastolic OH. Close attention should be paid to OH and its symptoms, especially dizziness, in the oldest-old patients, and in patients with renal failure.

Objective: To predict the 3-months mortality in permanently bedridden medical non-oncologic inpatients., Patients and Methods: 2788 consecutive patients admitted in 5 Italian Internal Medicine units from January 2016 through January 2017 were prospectively screened; 644 oncologic patients were excluded; 2144 non-oncologic patients (1021 female) were followed-up for mortality for 6 months. Main outcome was 3-months mortality in permanently bedridden inpatients with at least 2 of: creatinine clearance <35 ml/min; albumin < 2.5 g/dl; at least 2 hospital admissions in the previous 6 months. Advanced dementia and dysphagia were also recorded., Results: Mean age of the 2144 patients was 73.9 (SD, 14.9) years; 374 (17%) were permanently bedridden, 435 (20%) had a creatinine clearance <35 ml/min, 217 (10%) albumin <2,5 g/dl, 112 (5%) at least 2 hospital admissions in the previous 6 months. Seventy-seven (4%) patients were permanently bedridden with at least 2 of the above mentioned items, and 48 of them died within 3 months (62%) (p < 0.001;95% CI 51-73%). Regression coefficients of the variables associated with 3-months mortality in multivariate analysis in 998 patients of unit 1 (training cohort) were used to create a simple score, which was validated in the 1146 patients of the other units (validation cohort) and performed well in predicting the 3-months mortality (https://www.ejcrim.com/beclap/)., Conclusions: Approximately two out of three non-oncologic medical patients permanently bedridden having 2 of the abovementioned items are dead 3 months after index admission; a simple score including bedridden status, creatinine clearance, albumin, dysphagia, age and sex may help discuss management priorities., Competing Interests: Declaration of Competing Interest None., (Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.)

Objective: Aim of this paper is to evaluate the outcomes of 'idiopathic' chronic large pericardial effusions without initial evidence of pericarditis., Methods: All consecutive cases of idiopathic chronic large pericardial effusions evaluated from 2000 to 2015 in three Italian tertiary referral centres for pericardial diseases were enrolled in a prospective cohort study. The term 'idiopathic' was applied to cases that performed a complete diagnostic evaluation to exclude a specific aetiology. A clinical and echocardiographic follow-up was performed every 3-6 months., Results: 100 patients were included (mean age 61.3±14.6 years, 54 females, 44 patients were asymptomatic according to clinical evaluation) with a mean follow-up of 50 months. The baseline median size of the effusion (evaluated as the largest end-diastolic echo-free space) was 25 mm (IQR 8) and decreased to a mean value of 7 mm (IQR 19; p<0.0001) with complete regression in 39 patients at the end of follow-up. There were no new aetiological diagnoses. Adverse events were respectively: cardiac tamponade in 8 patients (8.0%), pericardiocentesis in 30 patients (30.0%), pericardial window in 12 cases (12.0%) and pericardiectomy in 3 patients (3.0%). Recurrence-free survival and complications-free survival was better in patients treated without interventions (log rank p=0.0038)., Conclusions: The evolution of 'idiopathic' chronic large pericardial effusions is usually benign with reduction of the size of the effusion in the majority of cases, and regression in about 40% of cases. The risk of cardiac tamponade is 2.2%/year and recurrence/complications survival was better in patients treated conservatively without interventions., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Acute pericarditis is not uncommon in clinical practice and may occur either as isolated disease or as a manifestation of another disease (known or still unknown). The etiology is varied and complex and a clinically-oriented approach to management is possible by identifying initial presentation features of high risk (risk of complications or specific disease: fever >38°C, subacute course without acute chest pain, large pericardial effusion, cardiac tamponade, and lack of response to empiric anti-inflammatory therapy), that suggest admission and additional diagnostic evaluation. In any case, a prompt anti-inflammatory therapy at full doses till remission is warranted to prevent complicated and prolonged courses. In this paper, we will try to clarify common doubts and outline evidence-based approaches to the diagnosis, therapy and follow-up of these patients.

Objectives: To verify the association between the presence of specific anti-52 Ro/SSA-p200 antibodies and congenital heart block (CHB)., Methods: 207 pregnant Italian women carrying anti-Ro/SSA Ab were retrospectively evaluated. Anti-p200 Ab were investigated in the mothers' sera by ELISA (Euro-Diagnostica,Wieslab SS-A p200)., Results: CHB occurred in 42 children (34 complete CHB), whereas 165 were not affected. All CHB cases were previously identified with an ELISA screening for anti-Ro/SSA 60 kD Ab. Anti-p200 Ab were more frequently positive (81.0% vs. 59.1%, p=0.013) and at a higher titer in CHB mothers (Absorbance ratio: 2.030 (0.208-4.052) vs. 0.925 (0.200-3.816); p=0.017). This association was maintained even when the 42 mothers of children with CHB were compared with a control group matched for age and diagnosis (80.9% vs. 50.0%; p=0.006). The presence of anti-p200 Ab provided an odds ratio (OR) for CHB of 2.98 (CI: 1.30-6.83), which was higher than that of other variables, such as maternal disease and other antibody specificities. CHB risk significantly decreased in the absence of this fine specificity (OR:0.34, CI: 0.15-0.77). However, while the negative predictive value related to anti-Ro/SSA 60 kD Ab ELISA was 100%, almost 20% of mothers negative for anti-p200 Ab delivered babies with CHB., Conclusions: Anti-p200 antibodies seem to be associated with CHB with a higher probability than anti-Ro/SSA Ab, and therefore may be an additional test to identify mothers at higher risk to deliver affected children. An ELISA screening for anti-Ro/SSA 60 kD Ab is nevertheless mandatory given the probability of developing CHB also in the absence of anti-p200 Ab.

Background: The potential clinical expression of tumor necrosis factor receptor-associated periodic syndrome (TRAPS), in the form of idiopathic recurrent acute pericarditis (IRAP) has not been explored in the medical literature. The aim of this study was to evaluate the incidence of TRAPS mutations in patients with recurrent pericarditis and identify possible clues to TRAPS diagnosis., Methods: Therefore, 131 consecutive Caucasian IRAP patients were investigated for mutations of the TRAPS gene and prospectively evaluated., Results: Out of 131 patients, 8 (6.1%) carried a mutation in the TNFRSF1A gene. Compared with those without genetic mutations, patients with TRAPS mutations had more frequently a positive family history for pericarditis and periodic fever syndromes (p < 0.001), a higher mean number of recurrences after the first year (p < 0.001), on colchicine treatment (p < 0.001), and a higher need of immunosuppressive therapies (p < 0.001)., Conclusion: TRAPS is a cause of recurrent pericarditis in 6% of unselected cases with recurrent pericarditis. A positive family history for pericarditis or periodic fever syndromes, a poor response to colchicine, recurrences after the first year from the index attack or on colchicine treatment, as well as the need of immunosuppressive agents are clues of the possible presence of TNFRSF1A gene mutations in patients with recurrent pericarditis.

Background: No preventive pharmacologic strategies have been proven efficacious for the prevention of postoperative effusions after cardiac surgery. Colchicine is safe and efficacious for the prevention of pericarditis. On this basis, we realized a substudy of the COPPS trial to assess the efficacy and safety of colchicine for the prevention of postoperative pericardial and pleural effusions., Methods: The COPPS is a multicenter, double-blind, randomized trial, where 360 consecutive patients (mean age 65.7 ± 12.3 years, 66% men), 180 in each treatment arm, were randomized on the third postoperative day to receive placebo or colchicine for 1 month (1.0 mg twice daily for the first day, followed by a maintenance dose of 0.5 mg twice daily in patients ≥70 kg, and halved doses for patients <70 kg). The incidence of postoperative effusions was evaluated in each study group., Results: Despite similar baseline features, colchicine significantly reduced the incidence of postoperative pericardial (12.8% vs 22.8%, P = .019, relative risk reduction 43.9%, no. of patients needed to treat 10) and pleural effusions (12.2% vs 25.6%, P = .002, relative risk reduction 52.3%, no. of patients needed to treat 8). The rate of side effects (only gastrointestinal intolerance) and drug withdrawal was similar in the study groups with a trend toward an increased rate of both events for colchicine. In multivariable analysis, female gender (hazard ratio 1.76, 95% CI 1.03-3.03, P = .040) and pleura incision (hazard ratio 2.58, 95% CI 1.53-4.53, P < .001) were risk factors for postoperative effusions., Conclusions: Colchicine is safe and efficacious for the primary prevention of postoperative effusions after cardiac surgery., (Copyright © 2011 Mosby, Inc. All rights reserved.)

Objectives: to analyse retrospectively the data of fetuses diagnosed with isolated complete atrioventricular block and efficacy of treatment of the fetus by maternal therapy., Materials: Between 1992 and 2004, we diagnosed complete atrioventricular block in 26 singleton and 2 twins fetuses of 27 pregnant women known to have anti Ro/La antibodies, 11 with autoimmune disease, one patient analysed in 2 pregnancies. At presentation, 20 of the fetuses were compensated and non-hydropic, while 8 had hydrops. Twenty patients were treated with dexamethasone, 2 with associated salbutamol and one mother with isoproterenol., Results: Age at presentation was not different between the hydropic and non-hydropic fetuses. The fetuses with hydrops, however, had a lower mean heart rate at presentation, 48.5 +/- 9.25 with a range from 32 to 60, compared to 59.95 +/- 7.9 beats per minute, with a range from 50 to 80, in the non-hydropic fetuses (p less than 0.002). Equally, after birth the mean heart rate in hydropic fetuses was 42.6 +/- 5.1, with a range from 38 to 50, as opposed to 56.05 +/- 11.8 beats per minute, with a range from 29 to 110, in the non-hydropic fetuses (p less than 0.015), The hydropic fetuses were delivered at 31.7 +/- 3.8 weeks' gestation, with a range from 29 to 38 weeks (p less than 0.003) compared to 35.5 weeks' gestation +/-2.04, with a range from 31 to 38, in the non-hydropic fetuses. Mortality was 37.5% in the hydropic fetuses, versus 5% of those without hydrops (p less than 0.02). Pacemakers were implanted in 22 of 26 infants born alive, at a median of 45 days, with a range from 1 day to 5 years, in those without hydrops during fetal life, and 3 days, with a range from 1 day to 8 months in those afflicted by hydrops, of whom 2 died despite the implant of the pacemaker. The presence and degree of hydrops had a significantly negative predictive value. No significant differences were observed between the treated and non treated cases, albeit that administration of steroids ameliorated rapidly the hydrops in 3 of 5 cases., Conclusions: The outcome in our cases was mainly dependent on the presence and degree of fetal cardiac failure. Treatment of the fetus by maternal administration of steroids did not result in any regression of the conduction disorder, but had a favourable effect on fetal hydrops.

Idiopathic recurrent acute pericarditis (IRAP) is suspected to be an autoimmune phenomenon. We studied 46 consecutive patients. We looked for: 1) the occurrence of new diagnoses of autoimmune diseases during our follow up; 2) HLA typing; and 3) the presence of the most frequent mutations linked to familial Mediterranean fever (FMF gene or MEFV). HLA typing was done in 21 patients at loci B, DRB1, DQA1 and DQB1. MEFV gene was looked in 23 patients using specific primers. During the follow-up we made a new diagnosis of primary Sjögren's syndrome in four patients (8.7%) and of rheumatoid arthritis in one patient (2.2%). HLA B14, DRB1*01 and DQB1*0202 were significantly more prevalent, but we did not find a typical HLA typing. MEFV gene was searched: exon 10 was checked by sequence and the E148Q mutation by restriction site analysis. No mutations were found. In conclusion, the prevalence of definite immunorheumatological diseases and the absence of the mutations linked to FMF reinforce the notion that idiopathic acute recurrent pericarditis is an autoimmune condition.